Linked Data
ClinVar Variation Id:
558290
ClinVar RCV Id:
RCV000674534
dbSNP Id:
rs1553320498
MyVariant Identifiers:
chr1:g.216246984_216247004dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246984_216247004dup , CM000663.2:g.216246984_216247004dup | GRCh38 |
| NC_000001.10:g.216420326_216420346dup , CM000663.1:g.216420326_216420346dup | GRCh37 |
| NC_000001.9:g.214486949_214486969dup | NCBI36 |
| NG_009497.1:g.181393_181413dup | |
| NG_009497.2:g.181445_181465dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2390_2410dup MANE Select | ENSP00000305941.3:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| ENST00000674083.1:c.2390_2410dup | ENSP00000501296.1:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| ENST00000307340.7:c.2390_2410dup | ENSP00000305941.3:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| ENST00000366942.3:c.2390_2410dup | ENSP00000355909.3:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| NM_007123.5:c.2390_2410dup | NP_009054.5:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| NM_206933.2:c.2390_2410dup | NP_996816.2:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| NM_206933.3:c.2390_2410dup | NP_996816.2:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| NM_007123.6:c.2390_2410dup | NP_009054.6:p.Leu803_Pro804insArgAspThrAlaGlySerLeu | |
| NM_206933.4:c.2390_2410dup MANE Select | NP_996816.3:p.Leu803_Pro804insArgAspThrAlaGlySerLeu |